Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding agrin, an extracellular matrix molecule released by the nerve and critical for formation of the neuromuscular junction. Gene analysis identified a homozygous missense mutation, c.5125G>C, leading t...

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Bibliografiske detaljer
Main Authors: Huzé, Caroline, Bauché, Stéphanie, Richard, Pascale, Chevessier, Frédéric, Goillot, Evelyne, Gaudon, Karen, Ben Ammar, Asma, Chaboud, Annie, Grosjean, Isabelle, Lecuyer, Heba-Aude, Bernard, Véronique, Rouche, Andrée, Alexandri, Nektaria, Kuntzer, Thierry, Fardeau, Michel, Fournier, Emmanuel, Brancaccio, Andrea, Rüegg, Markus A., Koenig, Jeanine, Eymard, Bruno, Schaeffer, Laurent, Hantaï, Daniel
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2009
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2725239/
https://ncbi.nlm.nih.gov/pubmed/19631309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.06.015
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